chr12-121184577-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002562.6(P2RX7):c.1563C>T(p.His521His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000533 in 1,614,002 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002562.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
P2RX7 | NM_002562.6 | c.1563C>T | p.His521His | synonymous_variant | 13/13 | ENST00000328963.10 | NP_002553.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
P2RX7 | ENST00000328963.10 | c.1563C>T | p.His521His | synonymous_variant | 13/13 | 1 | NM_002562.6 | ENSP00000330696.6 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000758 AC: 19AN: 250558Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135618
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461782Hom.: 0 Cov.: 40 AF XY: 0.0000536 AC XY: 39AN XY: 727190
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at